用于 HLA-DQB1*02 基因分型的唾液直接 PCR 方案。

IF 2.3 4区 医学 Q3 GENETICS & HEREDITY International Journal of Immunogenetics Pub Date : 2024-01-31 DOI:10.1111/iji.12656
Angeles Carrillo, María Jimena Manzur, Maximiliano Juri Ayub
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引用次数: 0

摘要

乳糜泻(CD)是一种免疫性疾病,由易感基因个体摄入麸质引发。HLA-DQB1*02 等位基因是主要的易感遗传因子,也是一线基因分型筛查的候选基因。我们设计并验证了一种简单、无需 DNA 纯化的 PCR 方案,可直接从粗唾液中检测 DQB1*02 等位基因。这种检测方法还能区分同基因携带者和异基因携带者。我们建议将这种方法用于大规模筛查和/或流行病学研究。
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Saliva direct PCR protocol for HLA-DQB1*02 genotyping

Celiac disease (CD) is an immune disorder, that is triggered by gluten ingestion in genetically predisposed individuals. The HLA-DQB1*02 allele is the main predisposing genetic factor and a candidate for first-line genotyping screening. We designed and validated a simple, DNA purification-free PCR protocol directly from crude saliva, enabling the detection of the DQB1*02 allele. This assay also distinguishes homozygous from heterozygous carriers. We propose this method for use in mass screening and/or epidemiological studies.

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来源期刊
CiteScore
4.70
自引率
0.00%
发文量
48
审稿时长
6-12 weeks
期刊介绍: The International Journal of Immunogenetics (formerly European Journal of Immunogenetics) publishes original contributions on the genetic control of components of the immune system and their interactions in both humans and experimental animals. The term ''genetic'' is taken in its broadest sense to include studies at the evolutionary, molecular, chromosomal functional and population levels in both health and disease. Examples are: -studies of blood groups and other surface antigens- cell interactions and immune response- receptors, antibodies, complement components and cytokines- polymorphism- evolution of the organisation, control and function of immune system components- anthropology and disease associations- the genetics of immune-related disease: allergy, autoimmunity, immunodeficiency and other immune pathologies- All papers are seen by at least two independent referees and only papers of the highest quality are accepted.
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